The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

Neuromuscular Disorders - Tập 14 - Trang 147-157 - 2004
Stephan Züchner1, Matthias Vorgerd2, Eckhart Sindern2, J.Michael Schröder1
1Institut für Neuropathologie, Universitätsklinikum der RWTH Aachen, Pauwelsstrasse 32, 52074 Aachen, Germany
2Department of Neurology, Ruhr-University Bochum, Germany

Tài liệu tham khảo

Reilly, 2000, Classification of the hereditary motor and sensory neuropathies, Curr Opin Neurol, 13, 561, 10.1097/00019052-200010000-00009 Skre, 1974, Genetic and clinical aspects of Charcot-Marie-Tooth's disease, Clin Genet, 6, 98, 10.1111/j.1399-0004.1974.tb00638.x Harding, 1980, The clinical features of hereditary motor and sensory neuropathy types I and II, Brain, 103, 259, 10.1093/brain/103.2.259 Davis, 1978, The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification, J Genet Hum, 26, 311 Boerkoel, 2002, Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype–phenotype correlation, Ann Neurol, 51, 190, 10.1002/ana.10089 Zhao, 2001, Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta, Cell, 105, 587, 10.1016/S0092-8674(01)00363-4 Verhoeven, 2003, Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy, Am J Hum Genet, 72, 722, 10.1086/367847 Antonellis, 2003, Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V, Am J Hum Genet, 72, 1293, 10.1086/375039 Mersiyanova, 2000, A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene, Am J Hum Genet, 67, 37, 10.1086/302962 Ismailov, 2001, A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21, Eur J Hum Genet, 9, 646, 10.1038/sj.ejhg.5200686 Takashima, 1999, Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1, Neuromuscul Disord, 9, 368, 10.1016/S0960-8966(99)00021-8 Dyck, 1994, Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis, Ann Neurol, 35, 608, 10.1002/ana.410350515 De Jonghe, 2001, Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E, Ann Neurol, 49, 245, 10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A Georgiou, 2002, A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family, Neurogenetics, 4, 93, 10.1007/s10048-002-0138-4 Yoshihara, 2002, Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals, J Peripher Nerv Syst, 7, 221, 10.1046/j.1529-8027.2002.02028.x Jordanova, 2003, Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease, Brain, 126, 590, 10.1093/brain/awg059 Brownlees, 2002, Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport, Hum Mol Genet, 11, 2837, 10.1093/hmg/11.23.2837 Lee, 1994, A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease, Neuron, 13, 975, 10.1016/0896-6273(94)90263-1 Perez-Olle, 2002, Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation, J Cell Sci, 115, 4937, 10.1242/jcs.00148 Hattori, 2003, Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients, Brain, 126, 134, 10.1093/brain/awg012 Senderek, 2000, Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ‘hotspot’ on Thr124Met, Brain Pathol, 10, 235, 10.1111/j.1750-3639.2000.tb00257.x Schröder, 1999, Pathologie peripherer Nerven, 13/8, 862 Schröder, 1991, Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature, Acta Neuropathol (Berlin), 82, 471, 10.1007/BF00293381 Takashima, 2002, Periaxin mutations cause a broad spectrum of demyelinating neuropathies, Ann Neurol, 51, 709, 10.1002/ana.10213 Grehl, 1991, Significance of degenerating endoneurial cells in peripheral neuropathy, Acta Neuropathol (Berlin), 81, 680, 10.1007/BF00296380 Jacobs, 1985, Qualitative and quantitative morphology of human sural nerve at different ages, Brain, 108, 897, 10.1093/brain/108.4.897 De Jonghe P, Timmerman V, Van Broeckhoven C, workshop participants. Second Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (Distal HMN-Spinal CMT); 1998. Sakaguchi, 1993, Reduced diameter and conduction velocity of myelinated fibers in the sciatic nerve of a neurofilament-deficient mutant quail, Neurosci Lett, 153, 65, 10.1016/0304-3940(93)90078-Y Bort, 1997, Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies, Hum Genet, 99, 746, 10.1007/s004390050442 Marrosu, 1998, Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene, Neurology, 50, 1397, 10.1212/WNL.50.5.1397 Snipes, 1992, Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13), J Cell Biol, 117, 225, 10.1083/jcb.117.1.225 Sohl, 1996, A second alternative transcript of the gap junction gene connexin32 is expressed in murine Schwann cells and modulated in injured sciatic nerve, Eur J Cell Biol, 69, 267 Scherer, 1999, Axonal pathology in demyelinating diseases, Ann Neurol, 45, 6, 10.1002/1531-8249(199901)45:1<6::AID-ART3>3.0.CO;2-3 de Waegh, 1992, Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells, Cell, 68, 451, 10.1016/0092-8674(92)90183-D Yin, 1998, Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons, J Neurosci, 18, 1953, 10.1523/JNEUROSCI.18-06-01953.1998 Zhu, 1997, Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments, Exp Neurol, 148, 299, 10.1006/exnr.1997.6654 Ohara, 1993, Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene, J Cell Biol, 121, 387, 10.1083/jcb.121.2.387 Misu, 2000, An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val), J Neurol Neurosurg Psychiatry, 69, 806, 10.1136/jnnp.69.6.806 Kennerson, 2001, Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2, Am J Hum Genet, 69, 883, 10.1086/323743 Verhoeven, 2001, Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1, Am J Hum Genet, 69, 889, 10.1086/323742 Malandrini, 2001, Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease, J Submicrosc Cytol Pathol, 33, 59 van Swieten, 1988, Interobserver agreement for the assessment of handicap in stroke patients, Stroke, 19, 604, 10.1161/01.STR.19.5.604